Neurol. praxi. 2017;18(1):58-61 | DOI: 10.36290/neu.2017.064

Pontocerebellar hypoplasia

MUDr. Tereza Svrčinová, MUDr. Vladimíra Sládková, Ph.D., MUDr. Michaela Kaiserová, Ph.D., prof. MUDr. Petr Kaňovský, CSc.

Neurologická klinika FN a LF UP Olomouc

Pontocerebellar hypoplasia is a group of heterogeneous inherited disorders. There have been reported eight different subtypes up

to now, but the most common are type 1 and 2. Usually have prenatal or early postnatal onset, typically it is manifested by severe

psychomotor retardation with hypotonia or on the other hand with spasticity. Most of the patient has microcephaly and during

the disease there are reported seizures. The diagnosis is based on genetic testing, nowadays are known several causal genes and

on neuroimaging with characteristic hypoplasia and atrophy of the cerebellum and variable pontine atrophy. We documented the

case report of two sisters with delay psychomotor development, they have severe mental retardation and severe motor impairment

with kvadruspasticity. There have been reported epileptic seizures and MR confirm hypoplasia of the cerebellum and pons.

Keywords: pontocerebellar hypoplasia, differential diagnosis of cerebellar ataxias, genetics

Published: March 1, 2017  Show citation